Results 51 to 60 of about 67,573 (268)

A novel approach for determining cancer genomic breakpoints in the presence of normal DNA. [PDF]

PLoS ONE, 2007
CDKN2A (encodes p16(INK4A) and p14(ARF)) deletion, which results in both Rb and p53 inactivation, is the most common chromosomal anomaly in human cancers.
Yu-Tsueng Liu, Dennis A Carson
doaj   +1 more source

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [PDF]

, 2019
BackgroundHomozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low-density lipoprotein (LDL) cholesterol in affected individuals.
Balamir, Melek, Chu, Catherine, Gonzaludo, Nina, Grenville, Zoe, Kane, John P, Kwok, Pui-Yan, Lao, Richard, Levy-Sakin, Michal, Ma, Walfred, Mak, Angel CY, Malloy, Mary J, Poon, Annie, Pullinger, Clive R, Vaka, Dedeepya, Wong, Karen HY, Wong, Nicolas   +15 more
core   +1 more source

Tigecycline Disk Diffusion Breakpoints of Acinetobacter spp.: a Clinical Point of View [PDF]

Journal of Clinical Microbiology, 2007
In the January 2007 issue of the Journal of Clinical Microbiology, Jones et al. reported a multicenter study of the tigecycline disk diffusion breakpoints of Acinetobacter spp., including multidrug-resistant (MDR) strains. The authors concluded that a breakpoint zone diameter of 16/12 mm to define susceptibility/resistance, respectively, instead of ...
Daniel, Curcio, Francisco, Fernández, Ronald N, Jones, Mary Jane, Ferraro, L Barth, Reller, Paul C, Schreckenberger, Helio S, Sader   +6 more
openaire   +2 more sources

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Mechanisms for Complex Chromosomal Insertions. [PDF]

PLoS Genetics, 2016
Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same chromosome or the other homologue, constituting ~2% of nonrecurrent copy-number gains.
Shen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, Bo Yuan, Mitchell L Cooper, Maria A Magriñá, Carlos A Bacino, Seema R Lalani, Amy M Breman, Janice L Smith, Ankita Patel, Rodger H Song, Weimin Bi, Sau Wai Cheung, Claudia M B Carvalho, Paweł Stankiewicz, James R Lupski   +16 more
doaj   +1 more source

Introduction to the Revised International Guidelines on Breakpoints for Antimicrobial Susceptibility Testing [PDF]

Annals of Clinical Microbiology, 2023
Clinical and Laboratory Standards Institute (CLSI) M100 ‘Performance Standards for Antimicrobial Susceptibility Testing (AST)’ and the European Committee on AST (EUCAST) ‘Breakpoint tables for interpretation of MICs and zone diameters’ guidelines for ...
Jae-Woo Chung
doaj   +1 more source

Adenoid cystic carcinoma: emerging role of translocations and gene fusions. [PDF]

, 2016
Adenoid cystic carcinoma (ACC), the second most common salivary gland malignancy, is notorious for poor prognosis, which reflects the propensity of ACC to progress to clinically advanced metastatic disease.
Brait, Mariana, Ha, Patrick K, Izumchenko, Evgeny, Meir, Juliet, Sidransky, David, Wysocki, Piotr T   +5 more
core   +3 more sources

A proposal of clinical breakpoints for amoxicillin applicable to porcine respiratory tract pathogens [PDF]

Veterinary Microbiology, 2008
In the present position paper, an attempt was made to establish clinical breakpoints of amoxicillin to classify porcine respiratory tract pathogens as susceptible, intermediate or resistant based on their minimum inhibitory concentrations of amoxicillin.
Stefan, Schwarz, Alexander, Böttner, Luc, Goossens, Luc, Goosens, H Mohamed, Hafez, Katrin, Hartmann, Martin, Kaske, Corinna, Kehrenberg, Manfred, Kietzmann, Dieter, Klarmann, Günter, Klein, Peter, Krabisch, Gabriele, Luhofer, Angelika, Richter, Bianka, Schulz, Claudia, Sigge, Karl-Heinz, Waldmann, Jürgen, Wallmann, Christiane, Werckenthin   +18 more
openaire   +3 more sources

Pharmacokinetic–pharmacodynamic cutoff values for benzylpenicillin in horses to support the establishment of clinical breakpoints for benzylpenicillin antimicrobial susceptibility testing in horses

Frontiers in Microbiology, 2023
IntroductionThe aim of this international project was to establish a species-specific Clinical Breakpoint for interpretation of Antimicrobial Susceptibility Testing of benzylpenicillin (BP) in horses.MethodsA population pharmacokinetic model of BP ...
Elodie A. Lallemand, Alain Bousquet-Mélou, Laura Chapuis, Jennifer Davis, Aude A. Ferran, Butch Kukanich, Taisuke Kuroda, Marlène Z. Lacroix, Yohei Minamijima, Lena Olsén, Ludovic Pelligand, Felipe Ramon Portugal, Béatrice B. Roques, Elizabeth M. Santschi, Katherine E. Wilson, Pierre-Louis Toutain, Pierre-Louis Toutain   +16 more
doaj   +1 more source

The role of pharmacokinetics/pharmacodynamics in setting clinical MIC breakpoints: the EUCAST approach [PDF]

Clinical Microbiology and Infection, 2012
Clinical breakpoints are used in clinical microbiology laboratories to categorize microorganisms as clinically susceptible (S), intermediate (I) or resistant (R) dependent on the quantitative antimicrobial susceptibility as indicated by the MIC value determined in a well-defined standard test system. The laboratory report, with the designations of S, I
Mouton, J.W., Brown, D.F., Apfalter, P., Canton, R., Giske, C.G., Ivanova, M., MacGowan, A.P., Rodloff, A., Soussy, C.J., Steinbakk, M., Kahlmeter, G.   +10 more
openaire   +3 more sources